E88K (p.Glu88Lys) variant of MYH11 (Myosin-11)
E88K (p.Glu88Lys) in MYH11 (Myosin-11) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
E88K (p.Glu88Lys) variant details
- p.Glu88Lys
- rs1432299511
- gnomAD rs1432299511
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.89
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available